Diaz-Lombana Natalia, Diaz-Ordoñez Lorena, Gutierrez-Medina Juan David, Pachajoa Harry
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.
Departamento de Ciencias Básicas Médicas, Facultad de Salud, Universidad Icesi, Cali, Colombia.
Front Genet. 2023 Jun 20;14:1158350. doi: 10.3389/fgene.2023.1158350. eCollection 2023.
Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK) levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery, and feeding difficulty corrected with a gastrostomy. Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant ( NM_000426.3:c.4198C>T) and a novel likely pathogenic variant ( NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup variant causing CMD1A.
1A型先天性肌营养不良（CMD1A）是一种由该基因突变引起的罕见常染色体隐性疾病。CMD1A的特征是从出生后的头几个月起就出现外周肌张力减退和肌肉无力、脑白质异常以及肌酸磷酸激酶（CPK）水平升高。我们描述了一名来自哥伦比亚的8岁女孩，其临床特征与CMD1A相符，通过手术矫正了严重的脊柱侧弯，并通过胃造口术矫正了喂养困难。全外显子组测序鉴定出两个杂合变异：一个已报道的无义变异（NM_000426.3:c.4198C>T）和一个新的可能致病变异（NM_000426.3:c.9227_9243dup）。这是哥伦比亚首例经基因确诊的CMD1A病例，也是导致CMD1A的c.9227_9243dup变异的首次报道。
